RESUMO
BACKGROUND: Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of colorectal and other cancers. METHODS: A team of 38 experts convened to update the 2008 European recommendations for the clinical management of patients with adenomatous polyposis syndromes. Additionally, other rare monogenic adenomatous polyposis syndromes were reviewed and added. Eighty-nine clinically relevant questions were answered after a systematic review of the existing literature with grading of the evidence according to Grading of Recommendations, Assessment, Development, and Evaluation methodology. Two levels of consensus were identified: consensus threshold (≥67% of voting guideline committee members voting either 'Strongly agree' or 'Agree' during the Delphi rounds) and high threshold (consensus ≥ 80%). RESULTS: One hundred and forty statements reached a high level of consensus concerning the management of hereditary adenomatous polyposis syndromes. CONCLUSION: These updated guidelines provide current, comprehensive, and evidence-based practical recommendations for the management of surveillance and treatment of familial adenomatous polyposis patients, encompassing additionally MUTYH-associated polyposis, gastric adenocarcinoma and proximal polyposis of the stomach and other recently identified polyposis syndromes based on pathogenic variants in other genes than APC or MUTYH. Due to the rarity of these diseases, patients should be managed at specialized centres.
Assuntos
Adenocarcinoma , Polipose Adenomatosa do Colo , DNA Glicosilases , Neoplasias Gástricas , Humanos , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/terapia , Polipose Adenomatosa do Colo/diagnóstico , Neoplasias Gástricas/genética , Neoplasias Gástricas/terapia , Neoplasias Gástricas/diagnóstico , Adenocarcinoma/genética , Adenocarcinoma/terapia , Adenocarcinoma/diagnóstico , DNA Glicosilases/genética , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/terapia , Síndromes Neoplásicas Hereditárias/diagnóstico , Europa (Continente) , Pólipos Adenomatosos/genética , Pólipos Adenomatosos/terapia , PóliposRESUMO
INTRODUCTION: APC-associated polyposis is a rare hereditary disorder characterized by the development of multiple adenomas in the digestive tract. Individuals with APC-associated polyposis need to be managed by specialized multidisciplinary teams in dedicated centers. AREAS COVERED: The study aimed to review the literature on Familial adenomatous polyposis (FAP) to provide an update on diagnostic and surgical management while focusing on strategies to minimize the risk of desmoid-type fibromatosis, cancer in anorectal remnant, and postoperative complications. FAP individuals require a comprehensive approach that includes diagnosis, surveillance, preventive surgery, and addressing specific extracolonic concerns such as duodenal and desmoid tumors. Management should be personalized considering all factors: genotype, phenotype, and personal needs. Total colectomy and ileo-rectal anastomosis have been shown to yield superior QoL results when compared to Restorative Procto colectomy and ileopouch-anal anastomosis with acceptable oncological risk of developing cancer in the rectal stump if patients rigorously adhere to lifelong endoscopic surveillance. Additionally, a low-inflammatory diet may prevent adenomas and cancer by modulating systemic and tissue inflammatory indices. EXPERT OPINION: FAP management requires a multidisciplinary and personalized approach. Integrating genetic advances, innovative surveillance techniques, and emerging therapeutic modalities will contribute to improving outcomes and quality of life for FAP individuals.
Assuntos
Polipose Adenomatosa do Colo , Colectomia , Qualidade de Vida , Humanos , Polipose Adenomatosa do Colo/terapia , Polipose Adenomatosa do Colo/cirurgia , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/etiologia , Equipe de Assistência ao Paciente , Medicina de Precisão , Fenótipo , Genótipo , Fibromatose Agressiva/terapia , Fibromatose Agressiva/patologiaRESUMO
There are three major hereditable syndromes that affect primarily the stomach: hereditary diffuse gastric cancer (HDGC), gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) and familial intestinal gastric cancer (FIGC). HDGC is caused by germline mutations in CDH1 gene that occur in 10-40% of HDGC families and, in a minority of cases, by mutations in CTNNA1 gene. GAPPS is caused by germline mutations in the promoter 1B of APC gene, and the genetic cause of FIGC is not fully elucidated. Gastric cancer can also be observed as part of other inherited cancer disorders, namely in familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, and hereditary breast and ovarian cancer syndrome. In this article, the state of the art of familial gastric cancer regarding the clinical, molecular and pathology features is reviewed, as well as the practical aspects for a correct diagnosis and clinical management.
Assuntos
Adenocarcinoma , Síndromes Neoplásicas Hereditárias , Neoplasias Gástricas , Adenocarcinoma/diagnóstico , Adenocarcinoma/genética , Adenocarcinoma/terapia , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/terapia , Proteína da Polipose Adenomatosa do Colo/genética , Pólipos Adenomatosos/diagnóstico , Pólipos Adenomatosos/genética , Pólipos Adenomatosos/terapia , Antígenos CD/genética , Caderinas/genética , Predisposição Genética para Doença/genética , Mutação em Linhagem Germinativa , Humanos , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/terapia , Regiões Promotoras Genéticas/genética , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/genética , Neoplasias Gástricas/terapia , alfa Catenina/genéticaRESUMO
Desmoid-type fibromatosis (DF) is a distinctly rare condition, mostly of younger adults, characterized by the development of locally aggressive tumors of mesenchymal origin. Desmoid tumors (DT) arise either sporadically or in association with FAP (familial adenomatous polyposis), although certain risk factors have also been identified, including pregnancy and antecedent surgical trauma. They can emerge from any connective tissue including muscle, fascia and aponeurosis and are therefore classified, according to location, as intra-abdominal, of the abdominal wall and extra-abdominal. Despite the lack of metastasizing potential, the course can be unpredictable. Various mutations of APC and ß-catenin genes, among others, play a catalytic role in the pathogenesis of this neoplastic entity. Surgery has lost its traditional role as first line treatment of the disease and several other treatment methods are being considered. Cytotoxic chemotherapy, non-cytotoxic systemic therapy and targeted therapy have been revealed as part of different treatment regimens. Recent progress regarding DT biology and molecular pathways has led to the development of promising novel biological agents. In any case, a multidisciplinary approach is required and is gradually employed, espe-cially in intra-abdominal DTs. In this review, we aim to present current knowledge on DF and summarize current treatment regimens as well as their effectiveness, with emphasis on the intraperitoneal type of DT.
Assuntos
Polipose Adenomatosa do Colo , Fibromatose Agressiva , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/terapia , Adulto , Algoritmos , Feminino , Fibromatose Agressiva/diagnóstico , Fibromatose Agressiva/genética , Fibromatose Agressiva/terapia , Humanos , Mutação , Gravidez , Fatores de RiscoRESUMO
BACKGROUND: Approximately 5% of colorectal cancer (CRC) cases are part of a well-defined inherited genetic syndrome and up to approximately 30% of these cases have a clinically defined familial basis. Psychosocial interventions in familial colorectal cancer address aspects mainly focused on affective, cognitive and behavioural outcomes. The present review aims to systematically map out the available psychosocial interventions for individuals with a family history of CRC and describe the current state of the research. METHODS: An extensive electronic search was conducted to investigate the literature published until June 2020. Inclusion criteria consisted of quantitative studies published in English that explored the impact of psychosocial interventions for familial CRC, clearly defined the psychosocial intervention offered and included participants with a family history of CRC. RESULTS: The analysis included 52 articles. Genetic counselling, educational interventions, psychological interventions and multimodal interventions were identified across the studies. In terms of diagnoses, Lynch Syndrome, Familial Adenomatous Polyposis, Familial Colorectal Cancer were the main conditions included in the studies. Affective, cognitive, behavioural aspects and quality of life emerged as the most frequently explored outcomes. The studies included individuals with both personal and familial history of CRC or family history alone. CONCLUSIONS: Our rapid review provides an overview of the literature exploring the impact of psychosocial interventions for familial CRC. The psychosocial interventions identified had an overwhelmingly positive impact across all types of outcomes measured. Genetic counselling appeared to be most beneficial, and this is expected as it is purposively designed to address genetic conditions. Further quantitative analysis of primary empirical research is needed to determine the efficacy and effectiveness of psychosocial interventions as well as the mechanisms through which they exert their effect.
Assuntos
Polipose Adenomatosa do Colo/terapia , Neoplasias Colorretais Hereditárias sem Polipose/terapia , Neoplasias Colorretais/terapia , Intervenção Psicossocial , Polipose Adenomatosa do Colo/congênito , Polipose Adenomatosa do Colo/psicologia , Adulto , Neoplasias Colorretais/congênito , Neoplasias Colorretais/psicologia , Neoplasias Colorretais Hereditárias sem Polipose/psicologia , Feminino , Aconselhamento Genético , Humanos , Masculino , Anamnese , Pessoa de Meia-Idade , Psicoterapia , Qualidade de VidaRESUMO
RATIONALE: Familial adenomatous polyposis (FAP) associated with desmoids tumors (DTs) complicated by abscess formation is rare. The management is not easy and the choice of the best treatment may be controversial. PATIENT CONCERNS: A 33-year-old man was admitted to our hospital for abdominal pain, fever, chills, nausea, and vomiting. He had a family history of FAP, and history of abdominal surgery. DIAGNOSES: An abdominal enhanced chest computed tomography (CT) scan revealed a soft tissue mass in the abdominal wall and an irregular mesenteric soft tissue mass with internal fistula and intra-abdominal abscess. A CT-guided biopsy of the abdominal wall mass revealed DTs. INTERVENTIONS: The patient was given oral antibiotics for 6âmonths, and ultimately underwent surgery. OUTCOMES: The patient had no evidence of recurrence on follow-up at 10âmonths. LESSONS: This case indicates that for patients with FAP who have a history of abdominal surgery and a progressively enlarging mass and abscess in the abdomen, it is necessary to consider the possibility of DTs. FAP-related DTs are rarely complicated by abscess formation. Antibiotic therapy plus surgical resection of the tumor may be effective and make good prognosis.
Assuntos
Abscesso Abdominal/etiologia , Polipose Adenomatosa do Colo/complicações , Polipose Adenomatosa do Colo/terapia , Fibromatose Abdominal/complicações , Fibromatose Abdominal/terapia , Fibromatose Agressiva/complicações , Fibromatose Agressiva/terapia , Abscesso Abdominal/tratamento farmacológico , Adulto , Antibacterianos/uso terapêutico , Biópsia , Fibromatose Abdominal/diagnóstico por imagem , Fibromatose Agressiva/diagnóstico , Humanos , Masculino , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
Identifying individuals with hereditary syndromes allows for timely cancer surveillance, opportunities for risk reduction, and syndrome-specific management. Establishing criteria for hereditary cancer risk assessment allows for the identification of individuals who are carriers of pathogenic genetic variants. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal provides recommendations for the assessment and management of patients at risk for or diagnosed with high-risk colorectal cancer syndromes. The NCCN Genetic/Familial High-Risk Assessment: Colorectal panel meets annually to evaluate and update their recommendations based on their clinical expertise and new scientific data. These NCCN Guidelines Insights focus on familial adenomatous polyposis (FAP)/attenuated familial adenomatous polyposis (AFAP) syndrome and considerations for management of duodenal neoplasia.
Assuntos
Polipose Adenomatosa do Colo , Neoplasias Colorretais , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/terapia , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/genética , Heterozigoto , Humanos , Fatores de RiscoRESUMO
Germline adenomatous polyposis coli (APC) gene mutation is a cancer-predisposing condition commonly presenting as familial adenomatous polyposis. We describe a patient first diagnosed at the age of 3 years with metastatic hepatoblastoma. With a positive family history, germline testing confirmed maternally inherited APC mutation (p.Thr899Ansfs*13). The patient was subsequently diagnosed at 8 years with colonic adenocarcinoma in the absence of macroscopic polyposis. Total colectomy with adjuvant chemotherapy was delivered and the patient remained disease-free for 5 years since the second diagnosis. This report demonstrates the importance of considering germline APC mutation in children with hepatoblastoma, who may benefit from the early institution of colonoscopic surveillance.
Assuntos
Adenocarcinoma/patologia , Proteína da Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/patologia , Neoplasias do Colo/patologia , Mutação em Linhagem Germinativa , Hepatoblastoma/patologia , Neoplasias Hepáticas/patologia , Adenocarcinoma/etiologia , Adenocarcinoma/terapia , Polipose Adenomatosa do Colo/etiologia , Polipose Adenomatosa do Colo/terapia , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimioterapia Adjuvante , Criança , Pré-Escolar , Colectomia , Neoplasias do Colo/etiologia , Neoplasias do Colo/terapia , Terapia Combinada , Feminino , Hepatoblastoma/genética , Hepatoblastoma/terapia , Humanos , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/terapia , PrognósticoRESUMO
Transition of care (TOC) in adolescents and young adults (AYAs) with chronic gastrointestinal disorders has received increased attention, especially in those with inflammatory bowel disease. AYAs with hereditary polyposis syndromes are a heterogeneous group of patients with overlapping and complex medical needs. These patients are particularly vulnerable because of the risk of loss of continuity of care and subsequent poor disease outcomes. The Pediatric Committee of the American College of Gastroenterology commissioned a report with recommendations on TOC in AYAs with hereditary polyposis syndromes. This report aims at achieving best practice by both pediatric and adult gastroenterologists despite the paucity of published evidence in this population reflected in the included PRISMA report. Therefore, the group extrapolated findings from the literature related to other chronic gastrointestinal disorders, and a high degree of expert consensus was scored for all recommendations. The report addresses TOC through identifying shared domains followed by specific recommendations in disease management, including models of care, providers and patient and socioeconomic factors relevant to TOC. Areas of strong emphasis include the need for early planning, flexibility in the transition process to maintain continuity during major surgical procedures, patient and family psychological readiness, liaison among team members addressing transition, and changing insurance coverage in this population.
Assuntos
Polipose Adenomatosa do Colo/terapia , Consenso , Gerenciamento Clínico , Transferência de Pacientes/normas , Sociedades Médicas , Adolescente , Criança , Humanos , Síndrome , Estados UnidosRESUMO
An expert consensus panel convened by the Italian Association for Inherited and Familial Gastrointestinal Tumors (Associazione Italiana per lo Studio della Familiarità ed Ereditarietà dei Tumori Gastrointestinali, AIFEG) reviewed the literature and agreed on a number of position statements regarding the definition and management of polyposis coli without an identified pathogenic mutation on the APC or MUTYH genes, defined in the document as NAMP (non-APC/MUTYH polyposis).
Assuntos
Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/terapia , Proteína da Polipose Adenomatosa do Colo/genética , Consenso , DNA Glicosilases/genética , Células Germinativas , Humanos , Itália , Sociedades MédicasRESUMO
INTRODUCTION: Mutations of the APC (adenomatous polyposis coli) gene correlate mainly with familial adenomatous polyposis (FAP), but can occasionally be pathogenic for medulloblastoma (MBL) wingless-related integration site (WNT) subtype, the course of which has only recently been described. METHODS: We retrieved all patients with documented germline APC mutations and a diagnosis of MBL to examine their outcome, late effects of treatment, and further oncological events. RESULTS: Between 2007 and 2016, we treated six patients, all with a pathogenic APC variant mutation and all with MBL, classic histotype. None had metastatic disease. All patients were in complete remission a median 65 months after treatment with craniospinal irradiation at 23.4 Gy, plus a boost on the posterior fossa/tumor bed up to 54 Gy, followed by cisplatin/carboplatin, lomustine, and vincristine for a maximum of eight courses. Five of six diagnostic revised MRI were suggestive of the WNT molecular subgroup typical aspects. Methylation profile score (in two cases) and copy number variation analysis (chromosome 6 deletion in two cases) performed on four of six retrieved samples confirmed WNT molecular subgroup. Four out of six patients had a positive family history of FAP, while gastrointestinal symptoms prompted its identification in the other two cases. Four patients developed other tumors (desmoid, MELTUMP, melanoma, pancreatoblastoma, thyroid Tir3) from 5 to 7 years after MBL. DISCUSSION: Our data confirm a good prognosis for patients with MBL associated with FAP. Patients' secondary tumors may or may not be related to their syndrome or treatment, but warrant adequate attention when planning shared guidelines for these patients.
Assuntos
Polipose Adenomatosa do Colo/epidemiologia , Neoplasias Cerebelares/epidemiologia , Meduloblastoma/epidemiologia , Qualidade de Vida , Polipose Adenomatosa do Colo/complicações , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/terapia , Adolescente , Adulto , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/diagnóstico , Neoplasias Cerebelares/terapia , Criança , Gerenciamento Clínico , Feminino , Humanos , Masculino , Meduloblastoma/complicações , Meduloblastoma/diagnóstico , Meduloblastoma/terapia , Linhagem , Prognóstico , Adulto JovemRESUMO
MUTYH-associated polyposis (MUTYH-associated polyposis, MAP) is an autosomal recessive inheritance disorder related to bi-allelic constitutional pathogenic variants of the MUTYH gene which was first described in 2002. In 2011, a group of French experts composed of clinicians and biologists, performed a summary of the available data on this condition and drew up recommendations concerning the indications and the modalities of molecular analysis of the MUTYH gene in index cases and their relatives, as well as the management of affected individuals. In view of recent developments, some recommendations have become obsolete, in particular with regard to the molecular analysis strategy since MUTYH gene has been recently included in a consensus panel of 14 genes predisposing to colorectal cancer. This led us to revise all the points of the previous expertise. We report here the revised version of this work which successively considers the phenotype and the tumor risks associated with this genotype, the differential diagnoses, the indication criteria and the strategy of the molecular analysis and the recommendations for the management of affected individuals. We also discuss the phenotype and the tumor risks associated with mono-allelic pathogenic variants of MUTYH gene.
Assuntos
Polipose Adenomatosa do Colo/genética , DNA Glicosilases/genética , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/terapia , Alelos , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/genética , Neoplasias Colorretais/terapia , DNA Glicosilases/análise , Diagnóstico Diferencial , Neoplasias do Sistema Digestório/genética , Saúde da Família , França , Predisposição Genética para Doença , Humanos , Neoplasias/genética , FenótipoRESUMO
Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual's lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.
Assuntos
Neoplasias Colorretais/genética , Neoplasias Colorretais/terapia , Vigilância da População , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/prevenção & controle , Polipose Adenomatosa do Colo/terapia , Colonoscopia , Neoplasias Colorretais/patologia , Neoplasias Colorretais/prevenção & controle , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/prevenção & controle , Neoplasias Colorretais Hereditárias sem Polipose/terapia , DNA Glicosilases/genética , Saúde da Família , Humanos , Polipose Intestinal/congênito , Polipose Intestinal/genética , Polipose Intestinal/terapia , Irlanda , Estilo de Vida , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/terapia , Síndrome de Peutz-Jeghers/genética , Síndrome de Peutz-Jeghers/terapia , Encaminhamento e Consulta/normas , Fatores de Risco , Reino UnidoAssuntos
Polipose Adenomatosa do Colo/patologia , Ducto Colédoco/patologia , Neoplasias Duodenais/diagnóstico , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/terapia , Adulto , Biópsia , Ducto Colédoco/diagnóstico por imagem , Ducto Colédoco/cirurgia , Neoplasias Duodenais/patologia , Neoplasias Duodenais/terapia , Duodeno/cirurgia , Ressecção Endoscópica de Mucosa , Feminino , Humanos , Jejuno/diagnóstico por imagem , Jejuno/patologia , Jejuno/cirurgia , Invasividade Neoplásica/diagnóstico por imagem , Invasividade Neoplásica/patologia , Neoplasia Residual , Pancreaticoduodenectomia , Proctocolectomia Restauradora , Ablação por Radiofrequência , Resultado do TratamentoRESUMO
Identifying individuals with hereditary syndromes allows for improved cancer surveillance, risk reduction, and optimized management. Establishing criteria for assessment allows for the identification of individuals who are carriers of pathogenic genetic variants. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal provide recommendations for the assessment and management of patients with high-risk colorectal cancer syndromes. These NCCN Guidelines Insights focus on criteria for the evaluation of Lynch syndrome and considerations for use of multigene testing in the assessment of hereditary colorectal cancer syndromes.
Assuntos
Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/terapia , Neoplasias Colorretais/terapia , Diagnóstico Diferencial , Humanos , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/terapia , Medição de RiscoRESUMO
ESGE recommends that individuals with hereditary gastrointestinal polyposis syndromes should be surveilled in dedicated units that provide monitoring of compliance and endoscopic performance measures. Strong recommendation, moderate quality of evidence, level of agreement 90â%.ESGE recommends performing esophagogastroduodenoscopy, small-bowel examination, and/or colonoscopy earlier than the planned surveillance procedure if a patient is symptomatic. Strong recommendation, low quality of evidence, level of agreement 100â%.
Assuntos
Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/terapia , Endoscopia Gastrointestinal , Polipose Adenomatosa do Colo/genética , Colectomia , Detecção Precoce de Câncer , Humanos , Vigilância da PopulaçãoRESUMO
BACKGROUND: Patients and their family members with hereditary colorectal cancer require longitudinal follow-up that is best achieved through a dedicated program with a registry. However, referrals for these conditions remain poor. Geographic information systems technology is a novel method to evaluate geographic variation in multiple realms but is being used more in health care. OBJECTIVE: The purpose of this study was to evaluate referral patterns with geographic information systems technology to better target efforts for improving overall referrals. We hypothesized that marked variation would exist as to the geospatial locations of referrals and that gastroenterologists would be the dominant referral source. DESIGN: This was a retrospective cross-sectional study. SETTINGS: The study was conducted at Vanderbilt University Medical Center. PATIENTS: The hereditary colorectal cancer registry was queried from June 2007 to August 2016 for demographics, distance to center, genetic mutations, and the specialty of the referring providers. Geospatial data on both patient and referring specialist were collected. MAIN OUTCOME MEASURES: We analyzed patient and referral data with geographic information systems technology to look for gaps and patterns. RESULTS: A total of 676 patients were entered into the registry during this period. Fifty-six percent were women, and the median age was 50 years (interquartile range, 42-60 y). The median distance from the center was 60 miles (interquartile range, 22-120 miles), and 31% carried an identified germline mutation. Gastroenterology represented the overall largest source of referrals and, when broken down by syndrome, they represented the top referral specialty for familial adenomatous polyposis. Surgeons were the largest referral source for Lynch syndrome. LIMITATIONS: The study was limited by covariates in the database. CONCLUSIONS: Our hereditary colorectal cancer registry serves a large geographic area, with the largest group of referrals coming from gastroenterologists. Performing this analysis with geographic information systems technology mapping allowed us to identify clustering of patients and providers throughout the region as well as gaps. This information will help to target outreach and distribution of educational materials for providers and their patients to increase registry enrollment. See Video Abstract at http://links.lww.com/DCR/A950.
Assuntos
Polipose Adenomatosa do Colo , Neoplasias Colorretais Hereditárias sem Polipose , Mapeamento Geográfico , Padrões de Prática Médica/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/terapia , Adulto , Neoplasias Colorretais Hereditárias sem Polipose/terapia , Estudos Transversais , Feminino , Gastroenterologia/estatística & dados numéricos , Sistemas de Informação Geográfica , Mutação em Linhagem Germinativa , Humanos , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Estudos Retrospectivos , Centros de Atenção TerciáriaRESUMO
Hereditary causes due to mutations and defects in certain genes account for roughly 5% to 10% of all colorectal cancers. These inherited syndromes have been associated with a 60% to 100% lifetime risk for development of colorectal cancer, depending on the genetic syndrome, and many also carry an increased risk for multiple extracolonic malignancies. In this second part of a review series on hereditary cancer syndromes, the focus will be to provide guidance on the features and management of the most commonly encountered hereditary colorectal cancers and polyposis conditions including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, and hamartomatous polyposis.